المؤلفون: Hawkes, Colin Patrick, Shulman, Dorothy I, Levine, Michael A

المصدر: European Journal of Endocrinology ; volume 183, issue 6, page K13-K21 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الوصف: Introduction Gain-of-function mutations in the CASR gene cause Autosomal Dominant Hypocalcemia Type 1 (ADH1), the most common genetic cause of isolated hypoparathyroidism. Subjects have increased calcium sensitivity in the renal tubule, leading to increased urinary calcium excretion, nephrocalcinosis and nephrolithiasis when compared with other causes of hypoparathyroidism. The traditional approach to treatment includes activated vitamin D but this further increases urinary calcium excretion. Methods In this case series, we describe the use of recombinant human parathyroid hormone (rhPTH)1–84 to treat subjects with ADH1, with improved control of serum and urinary calcium levels. Results We describe two children and one adult with ADH1 due to heterozygous CASR mutations who were treated with rhPTH(1–84). Case 1 was a 9.4-year-old female whose 24-h urinary calcium decreased from 7.5 to 3.9 mg/kg at 1 year. Calcitriol and calcium supplementation were discontinued after titration of rhPTH(1–84). Case 2 was a 9.5-year-old male whose 24-h urinary calcium decreased from 11.7 to 1.7 mg/kg at 1 year, and calcitriol was also discontinued. Case 3 was a 24-year-old female whose treatment was switched from multi-dose teriparatide to daily rhPTH(1–84). All three subjects achieved or maintained target serum levels of calcium and normal or improved urinary calcium levels with daily rhPTH(1–84) monotherapy. Conclusions We have described three subjects with ADH1 who were treated effectively with rhPTH(1–84). In all cases, hypercalciuria improved by comparison to treatment with conventional therapy consisting of calcium supplementation and calcitriol.

الإتاحة: https://doi.org/10.1530/eje-20-0710Test
https://eje.bioscientifica.com/view/journals/eje/183/6/EJE-20-0710.xmlTest
https://eje.bioscientifica.com/downloadpdf/journals/eje/183/6/EJE-20-0710.xmlTest

المؤلفون: Greene, Christopher N., Cordovado, Suzanne K., Turner, Daniel P., Keong, Lisa M., Shulman, Dorothy, Mueller, Patricia W.

المساهمون: CDC, U.S. Department of Energy

المصدر: Molecular Genetics and Metabolism Reports ; volume 1, page 312-323 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2014.07.002Test
https://api.elsevier.com/content/article/PII:S2214426914000445?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426914000445?httpAccept=text/plainTest

المؤلفون: Carel, Jean*-Claude, Eugster, Erica A, Rogol, Alan, Ghizzoni, Lucia, Palmert, Mark R, Antoniazzi, Franco, Berenbaum, Sheri, BOURGUIGNON, Jean-Pierre, Chrousos, George P, Coste, Joel, Deal, Sheri, de Vries, Liat, Foster, Carol, Heger, Sabine, Holland, Jack, Jahnukainen, Kirsi, Juul, Anders, Kaplowitz, Paul, Lahlou, Najiba, Lee, Mary M, Lee, Peter, Merke, Deborah P, Neely, E Kirk, Oostdijk, Wilma, Phillip, Moshe, Rosenfield, Robert L, Shulman, Dorothy, Styne, Dennis, Tauber, Maithe, Wit, Jan M

المصدر: Pediatrics, 123 (4), e752-62 (2009)

مصطلحات موضوعية: Adolescent, Body Height/drug effects, Bone Density/drug effects, Child, Female, Gonadotropin-Releasing Hormone/analogs & derivatives, Humans, Hypothyroidism/epidemiology, Luteinizing Hormone/pharmacology, Nafarelin/pharmacology, Organ Size, Ovary/pathology, Polycystic Ovary Syndrome/chemically induced, Puberty, Precocious/drug therapy/epidemiology/pathology/psychology, Uterus/pathology, Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

الوصف: peer reviewed ; OBJECTIVE: Gonadotropin-releasing hormone analogs revolutionized the treatment of central precocious puberty. However, questions remain regarding their optimal use in central precocious puberty and other conditions. The Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology convened a consensus conference to review the clinical use of gonadotropin-releasing hormone analogs in children and adolescents. PARTICIPANTS: When selecting the 30 participants, consideration was given to equal representation from North America (United States and Canada) and Europe, an equal male/female ratio, and a balanced spectrum of professional seniority and expertise. EVIDENCE: Preference was given to articles written in English with long-term outcome data. The US Public Health grading system was used to grade evidence and rate the strength of conclusions. When evidence was insufficient, conclusions were based on expert opinion. CONSENSUS PROCESS: Participants were put into working groups with assigned topics and specific questions. Written materials were prepared and distributed before the conference, revised on the basis of input during the meeting, and presented to the full assembly for final review. If consensus could not be reached, conclusions were based on majority vote. All participants approved the final statement. CONCLUSIONS: The efficacy of gonadotropin-releasing hormone analogs in increasing adult height is undisputed only in early-onset (girls <6 years old) central precocious puberty. Other key areas, such as the psychosocial effects of central precocious puberty and their alteration by gonadotropin-releasing hormone analogs, need additional study. Few controlled prospective studies have been performed with gonadotropin-releasing hormone analogs in children, and many conclusions rely in part on collective expert opinion. The conference did not endorse commonly voiced concerns regarding the use of gonadotropin-releasing hormone analogs, such as promotion of ...

العلاقة: urn:issn:0031-4005; urn:issn:1098-4275; https://orbi.uliege.be/handle/2268/109500Test; info:hdl:2268/109500; https://orbi.uliege.be/bitstream/2268/109500/1/Carel%20JC%202009%20%28consensus%20statement%20on%20the%20use%29%20Pediatrics%20p752.pdfTest; scopus-id:2-s2.0-65349104762; info:pmid:19332438

الإتاحة: https://doi.org/10.1542/peds.2008-1783Test
https://orbi.uliege.be/handle/2268/109500Test
https://orbi.uliege.be/bitstream/2268/109500/1/Carel%20JC%202009%20%28consensus%20statement%20on%20the%20use%29%20Pediatrics%20p752.pdfTest

المؤلفون: Wood, Michael A., Shulman, Dorothy I., Forlenza, Gregory P., Bode, Bruce W., Pinhas-Hamiel, Orit, Buckingham, Bruce A., Kaiserman, Kevin B., Liljenquist, David R., Bailey, Timothy S., Shin, John, Huang, Suiying, Chen, Xiaoxiao, Cordero, Toni L., Lee, Scott W., Kaufman, Francine R.

المصدر: Diabetes Technology & Therapeutics ; volume 20, issue 11, page 731-737 ; ISSN 1520-9156 1557-8593

مصطلحات موضوعية: Medical Laboratory Technology, Endocrinology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1089/dia.2018.0209Test

المؤلفون: Shulman, Dorothy I.

المصدر: Endocrine ; volume 12, issue 2, page 147-152 ; ISSN 0969-711X

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1385/endo:12:2:147Test

المؤلفون: HEINZE, HOWARD J., SHULMAN, DOROTHY I., DIAMOND, FRANK B., BERCU, BARRY B.

المصدر: Thyroid ; volume 3, issue 1, page 37-40 ; ISSN 1050-7256 1557-9077

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1089/thy.1993.3.37Test

المؤلفون: Shulman, Dorothy I., Sweetland, Margaret, Duckett, Gregory, Root, Allen W.

المصدر: Acta Endocrinologica ; volume 116, issue 1, page 138-144 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الوصف: The GH secretory response to varying doses (15, 30, 60 μg/kg) of sc administered hGHRH 1–44 (or normal saline) was measured in vivo in 10, 20, 30, 40, 50, 60 and 130 days old pentobarbital-anaesthetized, male rats. The 10-min GH level and ΔGH were in general significantly greater in older rats (50, 60, 130 days old) than in younger rats (10, 20 days old) following all doses hGHRH. Ten-day-old animals had no significant GH response to any dose of hGHRH tested. ΔGH correlated significantly with age (r = 0.36; P < 0.0001) and Sm-C level (r = 0.29; P < 0.01) but not with serum testosterone concentrations. Monolayer pituitary cell cultures were established in rats aged 10 to 130 days and were incubated with varying concentrations of hGHRH 1–44 (0.05, 0.5, 5.0, 50 nmol/l or incubation medium). Cultures from 10- and 20-day-old animals had a greater percentage increase over basal GH secretion than other groups at all concentrations of hGHRH tested ( P < 0.05). Age-related differences in the GH secretory response to hGHRH are present in male rats from 10 to 130 days. The in vitro results reported here suggest that the increase in magnitude and sensitivity of the GH response to hGHRH observed in pubertal animals in vivo under pentobarbital anaesthesia is likely due to influences above the level of the somatotrope receptor.

الإتاحة: https://doi.org/10.1530/acta.0.1160138Test
https://eje.bioscientifica.com/view/journals/eje/116/1/acta_116_1_021.xmlTest